regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSG1L_chr16_27782528_28068714 | 27850023 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01168.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0093a0001c0001t0001g0158a0001c0001t0001g0207others(6): Show | 9 | 240 | 0.0375 | 9 | c.551 others(26): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27874441 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0083a0001c0001t0001g0181a0001c0001t0002g0220others(10): Show | 13 | 240 | 0.0542 | 9 | c.550 others(28): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27948908 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG02055.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0023a0001c0001t0002g0096a0001c0001t0002g0231others(8): Show | 11 | 240 | 0.0458 | 9 | c.397 others(28): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27979691 | G | GAAGGAAG others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0070others(37): Show | 40 | 240 | 0.1667 | 9 | c.350 others(28): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119865467 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01993.hp2 HG02132.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0065 | a0001c0001t0002g0221a0001c0001t0002g0250a0001c0001t0017g0002others(1): Show | 4 | 300 | 0.0133 | 9 | c.910 others(26): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 8/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 120038980 | G | GAACTCTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0085a0001c0001t0001g0087a0001c0001t0001g0088others(296): Show | 299 | 300 | 0.9967 | 9 | c.89- others(26): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 120094384 | G | GGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02809.hp2 HG02818.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0030 | a0001c0001t0029g0215a0001c0001t0029g0216a0001c0001t0030g0213others(1): Show | 4 | 300 | 0.0133 | 9 | c.-95 others(18): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 1/11 | 951 | chr3 | TogoVar | |||||
GSPT1_chr16_11863128_11920956 | 11892829 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01255.hp1 HG01981.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0006a0001c0001t0008a0002c0002t0002others(2): Show | a0001c0001t0006g0129a0001c0001t0008g0196a0002c0002t0002g0262others(5): Show | 8 | 372 | 0.0215 | 9 | c.699 others(26): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 5/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11900848 | C | CAACCCAT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18939.hp2 NA18979.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0261a0002c0002t0002g0267a0002c0002t0002g0268others(3): Show | 6 | 372 | 0.0161 | 9 | c.353 others(26): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11911854 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(6): Show |
a0003a0016 | a0003c0003a0016c0025 | a0003c0003t0003a0003c0003t0023a0016c0025t0003 | a0003c0003t0003g0098a0003c0003t0003g0099a0003c0003t0003g0101others(6): Show | 9 | 372 | 0.0242 | 9 | c.352 others(26): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11915673 | C | CCCGCCGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02135.hp1 HG02886.hp2 HG03579.hp2 |
a0009a0015 | a0009c0018a0009c0019a0015c0020 | a0009c0018t0015a0009c0019t0033a0015c0020t0002 | a0009c0018t0015g0011a0009c0019t0033g0010a0015c0020t0002g0079 | 3 | 372 | 0.0081 | 9 | c.39_ others(14): Show |
p.Gly others(11): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/15 | 283/7141 | 47/1914 | 16/637 | chr16 | TogoVar | ||
GSR_chr8_30673066_30732846 | 30700723 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01358.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(6): Show | a0001c0001t0001g0109a0001c0001t0001g0119a0001c0001t0001g0120others(11): Show | 14 | 348 | 0.0402 | 9 | c.641 others(24): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 5/12 | chr8 | TogoVar | ||||||
GSTM2_chr1_109663057_109680286 | 109664341 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00621.hp2 others(37): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(14): Show | 40 | 356 | 0.1124 | 9 | c.-37 others(20): Show |
GSTM2 | ENSG00000213366.13 | transcript | ENST00000241337.9 | protein_coding | 3715 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109664341 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00621.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0015others(20): Show | 53 | 364 | 0.1456 | 9 | c.*30 others(20): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 2642 | chr1 | TogoVar | ||||||
GSTO1_chr10_104249892_104272455 | 104250417 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02165.hp1 HG02809.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0046others(3): Show | 17 | 378 | 0.0450 | 9 | c.-45 others(20): Show |
GSTO1 | ENSG00000148834.13 | transcript | ENST00000369713.10 | protein_coding | 4474 | chr10 | TogoVar | ||||||
GTF2E2_chr8_30573318_30663236 | 30658137 | T | TGGCGGTG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014a0001c0001t0003g0254a0001c0001t0003g0255others(4): Show | 8 | 378 | 0.0212 | 9 | c.-17 others(18): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 1/8 | 4540 | chr8 | TogoVar | |||||
GTF2E2_chr8_30573318_30663236 | 30658143 | T | TGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0350a0001c0001t0006g0351a0001c0001t0006g0352 | 3 | 378 | 0.0079 | 9 | c.-18 others(18): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 1/8 | 4546 | chr8 | TogoVar | |||||
GTF2F2_chr13_45115510_45289893 | 45228669 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0017a0001c0001t0001g0053a0001c0001t0001g0072others(4): Show | 7 | 210 | 0.0333 | 9 | c.386 others(28): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2H1_chr11_18317567_18372045 | 18345796 | G | GTCTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0027a0001c0001t0001g0043a0001c0001t0001g0189others(114): Show | 150 | 370 | 0.4054 | 9 | c.838 others(26): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GTF2H5_chr6_158163350_158204344 | 158169745 | T | TAATATAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01256.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0035a0001c0001t0041others(2): Show | a0001c0001t0018g0016a0001c0001t0018g0293a0001c0001t0035g0043others(4): Show | 8 | 384 | 0.0208 | 9 | c.-34 others(24): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
GTF2IRD1_chr7_74448906_74607605 | 74520842 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01433.hp1 NA19088.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0002a0002c0002t0001a0002c0004t0001 | a0001c0001t0002g0125a0002c0002t0001g0114a0002c0004t0001g0064 | 3 | 262 | 0.0115 | 9 | c.917 others(24): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2IRD2B_chr7_75087590_75154817 | 75119191 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0063a0001c0001t0001g0105a0001c0001t0001g0122others(2): Show | 5 | 170 | 0.0294 | 9 | c.239 others(26): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2IRD2_chr7_74791151_74856605 | 74851334 | T | TGGCGGCG others(2): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0003 | 2 | 8 | 0.2500 | 9 | c.-6+ others(20): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
GTF2I_chr7_74652718_74765692 | 74677781 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(102): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0044a0001c0001t0001g0050a0001c0001t0001g0051others(102): Show | 105 | 174 | 0.6035 | 9 | c.-5- others(26): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2I_chr7_74652718_74765692 | 74723428 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(66): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(66): Show | 69 | 174 | 0.3966 | 9 | c.943 others(26): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2I_chr7_74652718_74765692 | 74761874 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(36): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(36): Show | 39 | 174 | 0.2241 | 9 | c.*23 others(20): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1183 | chr7 | TogoVar | ||||||
GTF3A_chr13_27419619_27440823 | 27423090 | G | GTTAGTAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(292): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(70): Show | 295 | 420 | 0.7024 | 9 | c.-16 others(20): Show |
GTF3A | ENSG00000122034.17 | transcript | ENST00000381140.10 | protein_coding | 1528 | chr13 | TogoVar | ||||||
GTF3C3_chr2_196758035_196804683 | 196781355 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG03704.hp2 NA20129.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0106 | 3 | 252 | 0.0119 | 9 | c.111 others(26): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | ||||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01358.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0024a0001c0001t0001g0128others(2): Show | 6 | 252 | 0.0238 | 9 | c.111 others(26): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 317725 | C | CACCCCAC others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0107 | 1 | 155 | 0.0065 | 9 | c.350 others(24): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 1/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 319239 | T | TCGGCGGC others(2): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0016 | a0016c0021 | a0016c0021t0003 | a0016c0021t0003g0082 | 1 | 155 | 0.0065 | 9 | c.-45 others(18): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 444 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 322220 | A | AAGAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0021 | a0021c0027 | a0021c0027t0004 | a0021c0027t0004g0083 | 1 | 155 | 0.0065 | 9 | c.-34 others(20): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3425 | chrX | TogoVar | ||||||
GUCA1ANB_chr6_42150406_42168418 | 42167665 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02896.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0001 | a0001c0001t0001g0033a0001c0001t0001g0038a0001c0001t0001g0050others(5): Show | 8 | 450 | 0.0178 | 9 | c.*44 others(20): Show |
GUCA1ANB | ENSG00000287363.4 | transcript | ENST00000623004.2 | protein_coding | 4248 | chr6 | TogoVar | ||||||
GUCA1A_chr6_42168364_42185056 | 42169915 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01358.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(3): Show | 27 | 412 | 0.0655 | 9 | c.-36 others(20): Show |
GUCA1A | ENSG00000048545.18 | transcript | ENST00000372958.2 | protein_coding | 3448 | chr6 | TogoVar | ||||||
GUCA1B_chr6_42178284_42199956 | 42195329 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00741.hp2 HG01070.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0031others(14): Show | 27 | 418 | 0.0646 | 9 | c.-51 others(18): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 374 | chr6 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106698119 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02280.hp2 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0013a0001c0003t0002others(2): Show | a0001c0001t0002g0109a0001c0001t0002g0110a0001c0001t0002g0111others(4): Show | 7 | 256 | 0.0273 | 9 | c.199 others(30): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106706624 | C | CTCACACA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01169.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0016others(15): Show | a0001c0001t0004g0009a0001c0001t0004g0042a0001c0001t0004g0065others(28): Show | 31 | 256 | 0.1211 | 9 | c.199 others(28): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar | ||||||
GUCY1B1_chr4_155754021_155812811 | 155797325 | C | CTTTTTCA others(2): Show |
intron_variant | MODIFIER | HG02922.hp2 HG06807.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 4 | 364 | 0.0110 | 9 | c.977 others(24): Show |
GUCY1B1 | ENSG00000061918.14 | transcript | ENST00000264424.13 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GUCY1B1_chr4_155754021_155812811 | 155797735 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0297a0001c0001t0002g0298a0001c0001t0002g0299others(3): Show | 6 | 364 | 0.0165 | 9 | c.977 others(26): Show |
GUCY1B1 | ENSG00000061918.14 | transcript | ENST00000264424.13 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GXYLT2_chr3_72883046_72981915 | 72945303 | A | AAAATAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG02486.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0008a0001c0004t0029 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0051others(12): Show | 15 | 296 | 0.0507 | 9 | c.601 others(26): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GYG1_chr3_148986540_149036775 | 149022498 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(83): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0008a0001c0001t0023a0001c0002t0001others(9): Show | a0001c0001t0008g0102a0001c0001t0008g0103a0001c0001t0023g0101others(70): Show | 86 | 414 | 0.2077 | 9 | c.609 others(26): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2846056 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02165.hp1 NA18993.hp2 others(4): Show |
a0001a0015 | a0001c0001a0015c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0267a0001c0001t0001g0268a0001c0001t0002g0059others(4): Show | 7 | 316 | 0.0222 | 9 | c.149 others(26): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | chrX | TogoVar | ||||||
GYS1_chr19_48963130_48998309 | 48978530 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02818.hp2 NA18947.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0136a0001c0001t0001g0146a0001c0002t0001g0124others(4): Show | 7 | 390 | 0.0180 | 9 | c.117 others(26): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
GYS1_chr19_48963130_48998309 | 48992870 | A | ACACAGGA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02647.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0005a0001c0010a0001c0019 | a0001c0005t0007a0001c0010t0008a0001c0019t0007 | a0001c0005t0007g0031a0001c0010t0008g0030a0001c0010t0008g0033others(1): Show | 4 | 390 | 0.0103 | 9 | c.118 others(24): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 1/15 | chr19 | TogoVar | ||||||
GZMM_chr19_539053_554922 | 550658 | C | CCTGTCCC others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0038a0001c0001t0001g0061others(7): Show | 12 | 398 | 0.0302 | 9 | c.*86 others(18): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 737 | chr19 | TogoVar | ||||||
GZMM_chr19_539053_554922 | 551670 | T | TTCTCTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(92): Show | 157 | 398 | 0.3945 | 9 | c.*18 others(20): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1749 | chr19 | TogoVar | ||||||
H1-4_chr6_26151329_26162115 | 26153752 | C | CTATTATT others(2): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02040.hp1 HG02129.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0000a0002c0003t0001g0000 | 30 | 388 | 0.0773 | 9 | c.-26 others(20): Show |
H1-4 | ENSG00000168298.7 | transcript | ENST00000304218.6 | protein_coding | 2576 | chr6 | TogoVar | ||||||
H1-8_chr3_129538175_129556467 | 129546122 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02723.hp2 NA18947.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0058a0001c0001t0001g0079 | 7 | 422 | 0.0166 | 9 | c.89- others(24): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
H2AB1_chrX_154879972_154890558 | 154888380 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 NA18980.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 2 | 318 | 0.0063 | 9 | c.*29 others(20): Show |
H2AB1 | ENSG00000274183.2 | transcript | ENST00000620016.2 | protein_coding | 2823 | chrX | TogoVar | ||||||
H2AB3_chrX_155454415_155465005 | 155456569 | G | GAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 HG02922.hp2 HG03195.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0001 | a0001c0001t0001g0000a0005c0004t0001g0000 | 5 | 214 | 0.0234 | 9 | c.*30 others(20): Show |
H2AB3 | ENSG00000277745.1 | transcript | ENST00000615853.1 | protein_coding | 2845 | chrX | TogoVar |